Protein-coding gene in the species Homo sapiens
POU3F2 |
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Identifiers |
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Aliases | POU3F2, BRN2, N-Oct3, OCT7, OTF-7, OTF7, POUF3, brn-2, oct-7, POU class 3 homeobox 2 |
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External IDs | OMIM: 600494; MGI: 101895; HomoloGene: 4095; GeneCards: POU3F2; OMA:POU3F2 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 6 (human)[1] |
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| Band | 6q16.1 | Start | 98,834,574 bp[1] |
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End | 98,839,458 bp[1] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - ganglionic eminence
- ventricular zone
- buccal mucosa cell
- pars reticulata
- internal globus pallidus
- ventral tegmental area
- Pars compacta
- inferior ganglion of vagus nerve
- primary visual cortex
- superior vestibular nucleus
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| | More reference expression data |
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BioGPS | | More reference expression data |
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Gene ontology |
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Molecular function | - DNA binding
- transcription coactivator activity
- sequence-specific DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- protein binding
- identical protein binding
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
| Cellular component | - transcription regulator complex
- nucleus
| Biological process | - cellular response to organic substance
- regulation of transcription, DNA-templated
- astrocyte development
- hypothalamus cell differentiation
- Schwann cell development
- transcription by RNA polymerase II
- negative regulation of gene expression
- myelination in peripheral nervous system
- transcription, DNA-templated
- regulation of axonogenesis
- forebrain ventricular zone progenitor cell division
- neurohypophysis development
- brain development
- positive regulation of cell population proliferation
- epidermis development
- positive regulation of multicellular organism growth
- regulation of cell differentiation
- cerebral cortex radially oriented cell migration
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
- nervous system development
- neuron differentiation
- neuron fate commitment
- neuron fate specification
- neuron development
- cell differentiation
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 6: 98.83 – 98.84 Mb | n/a |
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PubMed search | [2] | [3] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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POU domain, class 3, transcription factor 2 is a protein that in humans is encoded by the POU3F2 gene.[4][5]
Function
N-Oct-3 is a protein belonging to a large family of transcription factors that bind to the octameric DNA sequence ATGCAAAT. Most of these proteins share a highly homologous region, referred to as the POU domain, which occurs in several mammalian transcription factors, including the octamer-binding proteins Oct1 (POU2F1; MIM 164175) and Oct2 (POU2F2; MIM 164176), and the pituitary protein Pit1 (PIT1; MIM 173110).
Class III POU genes are expressed predominantly in the CNS. It is likely that CNS-specific transcription factors such as these play an important role in mammalian neurogenesis by regulating their diverse patterns of gene expression.[5]
Disease linkage
The POU3F2 protein associates with the Bipolar disorder. It is involved in the neocortex development in mice, and is linked to a single nucleotide polymorphism, Rs1906252, that is associated with a cognitive phenotype: processing information speed.[6]
Chromosome 6q16.1 deletions resulting in loss of one copy of POU3F2 have been shown to cause a human syndrome of susceptibility to obesity and variable levels of developmental delay and Intellectual Disability.[7]
Interactions
POU3F2 has been shown to interact with PQBP1.[8]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000184486 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Schreiber E, Tobler A, Malipiero U, Schaffner W, Fontana A (January 1993). "cDNA cloning of human N-Oct3, a nervous-system specific POU domain transcription factor binding to the octamer DNA motif". Nucleic Acids Research. 21 (2): 253–8. doi:10.1093/nar/21.2.253. PMC 309100. PMID 8441633.
- ^ a b "Entrez Gene: POU3F2 POU domain, class 3, transcription factor 2".
- ^ Mühleisen TW, Leber M, Schulze TG, Strohmaier J, Degenhardt F, Treutlein J, et al. (2014). "Genome-wide association study reveals two new risk loci for bipolar disorder". Nature Communications. 5: 3339. Bibcode:2014NatCo...5.3339M. doi:10.1038/ncomms4339. hdl:1959.4/unsworks_13067. PMID 24618891.
- ^ Kasher PR, Schertz KE, Thomas M, Jackson A, Annunziata S, Ballesta-Martinez MJ, et al. (February 2016). "Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability". American Journal of Human Genetics. 98 (2): 363–72. doi:10.1016/j.ajhg.2015.12.014. PMC 4746363. PMID 26833329.
- ^ Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H (June 1999). "PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival". Human Molecular Genetics. 8 (6): 977–87. doi:10.1093/hmg/8.6.977. PMID 10332029.
Further reading
- Hara Y, Rovescalli AC, Kim Y, Nirenberg M (April 1992). "Structure and evolution of four POU domain genes expressed in mouse brain". Proceedings of the National Academy of Sciences of the United States of America. 89 (8): 3280–4. Bibcode:1992PNAS...89.3280H. doi:10.1073/pnas.89.8.3280. PMC 48850. PMID 1565620.
- Schreiber E, Harshman K, Kemler I, Malipiero U, Schaffner W, Fontana A (September 1990). "Astrocytes and glioblastoma cells express novel octamer-DNA binding proteins distinct from the ubiquitous Oct-1 and B cell type Oct-2 proteins". Nucleic Acids Research. 18 (18): 5495–503. doi:10.1093/nar/18.18.5495. PMC 332229. PMID 2216722.
- He X, Treacy MN, Simmons DM, Ingraham HA, Swanson LW, Rosenfeld MG (July 1989). "Expression of a large family of POU-domain regulatory genes in mammalian brain development". Nature. 340 (6228): 35–41. Bibcode:1989Natur.340...35H. doi:10.1038/340035a0. PMID 2739723. S2CID 4275887.
- Eisen T, Easty DJ, Bennett DC, Goding CR (November 1995). "The POU domain transcription factor Brn-2: elevated expression in malignant melanoma and regulation of melanocyte-specific gene expression". Oncogene. 11 (10): 2157–64. PMID 7478537.
- Atanasoski S, Toldo SS, Malipiero U, Schreiber E, Fries R, Fontana A (March 1995). "Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16". Genomics. 26 (2): 272–80. doi:10.1016/0888-7543(95)80211-4. PMID 7601453.
- Thomson JA, Murphy K, Baker E, Sutherland GR, Parsons PG, Sturm RA, Thomson F (August 1995). "The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells". Oncogene. 11 (4): 691–700. PMID 7651733.
- Atanasoski S, Schreiber E, Fontana A, Herr W (March 1997). "N-Oct 5 is generated by in vitro proteolysis of the neural POU-domain protein N-Oct 3". Oncogene. 14 (11): 1287–94. doi:10.1038/sj.onc.1200953. PMID 9178889. S2CID 20331599.
- Petersenn S, Rasch AC, Heyens M, Schulte HM (February 1998). "Structure and regulation of the human growth hormone-releasing hormone receptor gene". Molecular Endocrinology. 12 (2): 233–47. doi:10.1210/mend.12.2.0057. PMID 9482665.
- Kuhlbrodt K, Herbarth B, Sock E, Enderich J, Hermans-Borgmeyer I, Wegner M (June 1998). "Cooperative function of POU proteins and SOX proteins in glial cells". The Journal of Biological Chemistry. 273 (26): 16050–7. doi:10.1074/jbc.273.26.16050. PMID 9632656.
- Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H (June 1999). "PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival". Human Molecular Genetics. 8 (6): 977–87. doi:10.1093/hmg/8.6.977. PMID 10332029.
- Smit DJ, Smith AG, Parsons PG, Muscat GE, Sturm RA (November 2000). "Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors". European Journal of Biochemistry. 267 (21): 6413–22. doi:10.1046/j.1432-1327.2000.01737.x. PMID 11029584.
- Jaegle M, Ghazvini M, Mandemakers W, Piirsoo M, Driegen S, Levavasseur F, Raghoenath S, Grosveld F, Meijer D (June 2003). "The POU proteins Brn-2 and Oct-6 share important functions in Schwann cell development". Genes & Development. 17 (11): 1380–91. doi:10.1101/gad.258203. PMC 196070. PMID 12782656.
- Goodall J, Martinozzi S, Dexter TJ, Champeval D, Carreira S, Larue L, Goding CR (April 2004). "Brn-2 expression controls melanoma proliferation and is directly regulated by beta-catenin". Molecular and Cellular Biology. 24 (7): 2915–22. doi:10.1128/MCB.24.7.2915-2922.2004. PMC 371132. PMID 15024079.
- Goodall J, Wellbrock C, Dexter TJ, Roberts K, Marais R, Goding CR (April 2004). "The Brn-2 transcription factor links activated BRAF to melanoma proliferation". Molecular and Cellular Biology. 24 (7): 2923–31. doi:10.1128/MCB.24.7.2923-2931.2004. PMC 371133. PMID 15024080.
- Cobrinik D, Francis RO, Abramson DH, Lee TC (2007). "Rb induces a proliferative arrest and curtails Brn-2 expression in retinoblastoma cells". Molecular Cancer. 5 (1): 72. doi:10.1186/1476-4598-5-72. PMC 1764425. PMID 17163992.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
(1) Basic domains |
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(1.1) Basic leucine zipper (bZIP) | |
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(1.2) Basic helix-loop-helix (bHLH) | Group A | |
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Group B | |
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Group C bHLH-PAS | |
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Group D | |
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Group E | |
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Group F bHLH-COE | |
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(1.3) bHLH-ZIP | |
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(1.4) NF-1 | |
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(1.5) RF-X | |
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(1.6) Basic helix-span-helix (bHSH) | |
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(2) Zinc finger DNA-binding domains |
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(2.1) Nuclear receptor (Cys4) | subfamily 1 | |
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subfamily 2 | |
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subfamily 3 | |
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subfamily 4 | |
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subfamily 5 | |
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subfamily 6 | |
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subfamily 0 | |
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(2.2) Other Cys4 | |
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(2.3) Cys2His2 | |
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(2.4) Cys6 | |
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(2.5) Alternating composition | |
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(2.6) WRKY | |
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(4) β-Scaffold factors with minor groove contacts |
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(0) Other transcription factors |
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see also transcription factor/coregulator deficiencies |
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